{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580146549",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 67,
          "referenceAllele": "A",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021240",
      "geneNCBI_id": 79981,
      "geneSymbol": "FRMD1",
      "hgvs": [
        "NP_001116313.1:p.Ala67Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA366447319",
          "hgvs": "NM_001122841.3:c.199G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151893"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2221644[alleleid]",
        "alleleId": 2221644,
        "preferredName": "NM_024919.6(FRMD1):c.403G>A (p.Ala135Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2237394",
        "RCV": [
          "RCV004096890"
        ],
        "variationId": 2237394
      }
    ]
  },
  "type": "amino-acid"
}